Thursday 3 March is celebrated all over the world World Birth Defects Day (WBDD)i.e. i morphogenesis defects – phase of embryonic development corresponding to the onset of the shape of the body and its organs – from which derive macroscopic alterations of the structure of an organ, of a part of it or of a more extensive part of the body and which are present since birth.
AL S.ANNA. The University Hospital of Ferrara guarantees a complete path within theAt-risk pregnancy clinic, which ranges from the diagnosis of fetal congenital defects (through both invasive and non-invasive methods) to the therapeutic choice. In particular acareful analysis of the patient’s personal and family medical history and the search for risk factors allows you to identify patients to whom to offer one early morphological ultrasound; this makes it possible to arrive at the diagnosis earlier than the usual screening ultrasound times (around the fifth month) which applies to the population of low-risk pregnant women.
Faced with the diagnosis of congenital malformation the team of the S. Anna Obstetrics Clinic accompanies the couple through the difficult choice of terminate the pregnancy or the equally difficult choice of carrying it to term. In cases of extremely serious congenital fetal defects, it is possible to resort to the application of Law 194/78 which regulates the voluntary interruption of pregnancy. When 90 days of gestation are exceeded, the interruption can be made when:
– pregnancy or childbirth involve a serious danger for the woman’s life;
– pathological processes have been ascertained, including those relating to relevant anomalies or malformations of the unborn child, which can cause a serious danger to the physical or mental health of the woman.
In this case, the medical/obstetric staff manages the hospitalization and the pharmacological and surgical procedure, making sure to request all the pertinent diagnostic tests (genetic and anatomopathological) in order to improve the diagnostic/care path for possible future pregnancies.
In cases in which these congenital defects are compatible with life or in cases in which the woman decides to continue the pregnancy anyway, there is a path – always in the context of the Pregnancies at Risk clinic – in which multidisciplinary figures collaborate: neonatologists, pediatricians and geneticists. Once a week these professionals hold a multidisciplinary meeting (Fetal Board) to discuss cases collectively and to decide on the most appropriate care procedure.
The team work with the professionals of the Pediatric Surgery and Neonatology Operating Unit provides a decisive contribution in peripartum planning and postpartum treatment.
SOME DATA. In obstetrics, birth defects represent a large and heterogeneous set of alterations in the development of the organism occurring at time of conception or during pregnancy and lead to problems in body development or in the functioning of organs and biological molecules. Congenital defects represent the main cause of perinatal mortality and morbidity, the first cause of “chronic” hospital admissions in the pediatric age and one of the main elements on which the development of prenatal diagnosis and the implementation of risk prevention policies are based of fetal disease in the pre-conceptional period.
And early recognition of such anomalies, during pregnancy, can guarantee a timely treatment with an achievement of the full potential of life or it can allow for an early therapeutic termination of pregnancy as some of them may be incompatible with life. It therefore has a fundamental role ultrasound diagnostics in the first and especially in the second trimesterwith the possible support of other methods of invasive prenatal diagnosis (CVS, amniocentesis, funiculocentesis) and non-invasive (combined test or fetal DNA research on maternal blood), capable of determining the association with genetic disorders and syndromes. The incidence of congenital defects is approximately 2-3% in the general population and 80-90% of cases occur in couples who do not have specific risk factors. Therefore, all pregnant women share the generic risk of having a child with a malformation. This is the reason why all pregnant women are subjected to screening ultrasound examinations whose purpose is to identify, in a population of apparently healthy fetuses, those affected by these pathologies.